Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

doi:10.1186/s13023-014-0218-1

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Article

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Orphanet journal of rare diseases - 21 Jan 2015

Salort-Campana Emmanuelle, Nguyen Karine, Bernard Rafaelle, Jouve Elisabeth, Solé Guilhem, Nadaj-Pakleza Aleksandra, Niederhauser Julien, Charles Estelle, Ollagnon Elisabeth, Bouhour Françoise, Sacconi Sabrina, Echaniz-Laguna Andoni, Desnuelle Claude, Tranchant Christine, Vial Christophe, Magdinier Frederique, Bartoli Marc, Arne-Bes Marie-Christine, Ferrer Xavier, Kuntzer Thierry, Levy Nicolas, Pouget Jean, Attarian Shahram

Abstract excerpt

BACKGROUND: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging between 6 to10 RUs and to evaluate the influence of sex, age, and several...

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PMID: 25603992
DOI: 10.1186/s13023-014-0218-1
PMCID: PMC4320820

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